HSPB8 heat shock protein family B (small) member 8
Information
- Symbol
- HSPB8
- Type
- protein-coding
- Description
- heat shock protein family B (small) member 8
- Entrez Gene ID
- 26353
- Genome
- hg19
- Position
- chr12:119,616,736-119,632,551
- Genome
- hg38
- Position
- chr12:119,178,931-119,194,746
- MIM
- 608014 OMIM
- HGNC
- HGNC:30171 HGNC
- Ensembl
- ENSG00000152137 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 10 |
| Likely pathogenic | 0 | 12 |
| Benign | 4 | 48 |
| Likely benign | 0 | 112 |
| Conflicting classifications of pathogenicity | 0 | 10 |
| not provided | 0 | 2 |
| Uncertain significance | 0 | 262 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
90 |
 |
334 |
 |
6 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
| Target data | : |
MGeND data only
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| Category | : |
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| Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
Search Word
| Target data | : |
MGeND data only
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| Category | : |
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| Search word | : | |
| Filtering | : |
| Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | ||||||||||||||
Search Word
| Target data | : |
MGeND data only
|
| Category | : |
|
| Search word | : | |
| Filtering | : |
| Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | CMT2L |
| SYNONYM | DHMN2 |
| SYNONYM | E2IG1 |
| SYNONYM | H11 |
| SYNONYM | HMN2 |
| SYNONYM | HMN2A |
| SYNONYM | HMND2 |
| SYNONYM | HSP22 |
| SYNONYM | HSPB8-N1 |
| SYNONYM | HSPB8-N2 |
| MIM | 608014 OMIM |
| HGNC | HGNC:30171 HGNC |
| Ensembl | ENSG00000152137 Ensembl |
| AllianceGenome | HGNC:30171 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000281938.7 | hg38 | chr12 | 119,178,931 | 119,194,746 | 15,816 |
| ENST00000674542.1 | hg38 | chr12 | 119,178,953 | 119,194,688 | 15,736 |
| ENST00000281938.7 | hg19 | chr12 | 119,616,736 | 119,632,551 | 15,816 |
| ENST00000674542.1 | hg19 | chr12 | 119,616,758 | 119,632,493 | 15,736 |
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